Gingival Fibromatosis, Hypertelorism, Anti‐Mongoloid Obliquity, Multiple Telangiectases and Cafe Au Lait Pigmentation; A Unique Combination of Developmental Anomalies

Abstract

DIFFUSE, IDIOPATHIC GINGIVAL ENLARGEMENT is knownby various terms: gingival fibromatosis, fibromatosis gingivae, diffuse gingival hyperplasia, hypertrophy of the gums, idiopathic gingival hyperplasia, elephantiasis gin givae, gigantism of the gingivae, hereditary gingival fibromatosis, multiple epulides, hypertrophic gingivae, and congenital macrogingivae. We will use the term gingival fibromatosis in keeping with a recent and ex cellent review of this subject. 1The most common conditions which could be con fused with gingival fibromatosis are inflammatory hyper plasias, leukemic infiltrations, and dilantin therapy. In most cases, the history, the duration of the condition, or a peripheral blood count easily serve to separate these.As with many syndromes and genetic diseases, welldocumented cases are needed. A case is therefore re ported of gingival fibromatosis with other, formerly un reported findings with a ten-year follow-up. Case Report:The patient is a 36-year-old white female. In 1961, at the age of 25, she was seen at Emory University School of Dentistry with the complaint of excessive gin givae. At that time she was treated by one of us (W.T.M.) by surgical gingivectomy. Preoperative and postoperative photos are shown in Figures IA and IB, respectively.In 1971 the patient was reevaluated and completely worked up. The gingival condition was excellent ( Figure 1C); there was a mild, generalized degree of recurrence. The patient has had no gingival treatment of any kind except for routine dental prophylaxis. The gingival en largement was dated to the age of about 8 years.A bone survey, blood chemistry and counts, a karyo type, and a complete physical examination, including pelvic, were all performed. Past medical records were available and studied. The family was investigated.The patient was relatively short (156.8 cms.) with proportionately short arms, legs and fingers.The bone survey showed a rather abrupt flaring of the metaphyses, but no other long bone abnormalities. The skull series showed cranio-facial disproportion with a tendency towards brachycephaly. There was marked hypertelorism* (38 m.m.; normal 26.1 mm. ±1.9 mm.). 2 Both the frontal and maxillary sinuses were quite large ( Figure 2).Clinically, there was frontal and parietal bossing (Fig ure 3A). The maxilla and zygoma were hypoplastic with a resultant facies of sunken cheeks and prognathism ( Figure 3B). The nose was thin and straight with small alae. As previously stated, there was true ocular hyper telorism, mild proptosis, and anti-mongoloid obliquity of the eyes.The ear meatus, the antitragus and the helical rim were large; the lobe was small.Distributed over most of the body were hundreds of telangiectases which had been present since birth. As a child, a larger vascular hamartoma had been removed from behind the right ear. Two spots of cafe au lait pigmentation were present on the right buttock and the right small of the back; these measured approximately three centimeters in greatest diameter. The mother of the patient had the same ...

Hereditary Gingival Fibromatosis Associated With Generalized Aggressive Periodontitis: A Case Report

“…1 Gingival fibromatosis may also be observed together with a wide variety of genetically inherited disorders, such as cherubism, hypertrichosis, sensorineural hearing loss, Laband syndrome, Ramon syndrome associated with juvenile rheumatoid arthritis, Klippel-Trenaunay-Weber syndrome, and psychomotor retardation. [2][3][4][5][6][7][8][9] In addition to these systemic conditions, HGF has also been reported to occur with other intraoral/dental pathologies, such as supernumerary teeth 10 and histopathologic premalignancy characterized with epithelial dysplasia. 11 Isolated (non-syndromic) HGF can be caused by mutation of the SOS1 gene, 12 but the existence of genetic heterogeneity for HGF indicates that mutations of other genes can also cause the condition.…”

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

“…However, several ZLS-related entities have been reported to include caf e-au-lait pigmentation [Giansanti et al, 1973] or hypopigmentation [Tezcan et al, 1997]. The finding of segmental hyperpigmentation/hyperplasia in our proband suggests mosaicism for the gene defect causing ZLS; or perhaps a microdeletion with haploinsufficiency for neighboring genes explaining thus the extended phenotype.…”

Intellectual Disability: When the Hypertrichosis Is a Clue

“…Literature review showed that the main features of the syndrome are gingival hypertrophy associated with nails or terminal phalanges hypo/aplasia (100% of patients). [43][44][45][46][47][48][49][50] In more than 50% of the patients, a typical facial appearance is detectable, characterized by thick ears, large and bulbous nose, and thick lips with or without macrostomia. Common reported clinical features are moreover ID (more than 40%), joints hypermobility (48%), hypertrichosis of the face and/or the body (37%), hepatosplenomegaly (27%), and seizures (13%).…”

“…50 Clinical variability is wide even in the same family, and, as commonly observed, the seriousness of the somatic involvement often does not correlate with the severity of the ID. Several other rarer signs have been reported, as pigmentation disorders, 43,49 supernumerary teeth, 45,46,49 ocular anomalies, 47,49 and others. 44,48,49 This wide spectrum of clinical presentations of ZLS reported in the literature could be partly due to the absence, to date, of any confirmatory diagnostic test aimed at clearly defining the ZLS phenotype as compared with the overlapping conditions (DOOR and Cantù syndromes).…”